I-Holt-Oram syndrome. I-Heart-Heart Syndrome

I-Holt's syndrome - i-Oram - isifo esibalulekileyo esinalo i-autosomal yelifa, elibonakaliswa kukutshatyalaliswa kweentlobo ezininzi zegesi ngexesha elilodwa. Banoxanduva lwe-anatomical structure of heart and skeleton. Esi sifo sabizwa ngokuba yi-"heart-heart" syndrome.

Yintoni na?

Esi sifo, esizuze njengefa, sidibanisa ukungafani kakuhle kweengalo ezingaphezulu kunye neziphoso zesifo senhliziyo. Kubalulekile ukuqaphela isifo ekuqaleni kokuphuhliswa kwayo. Ukwenza oku, yenza uphando lofuzo. Abagcini nje ukuqinisekisa ukuxilongwa, kodwa kwakhona balingela ubungqina besi sifo kwizizukulwana ezizayo.

Ukuhlolwa kwe-ultrasound ngexesha lokukhulelwa kwenza kube lula ngexesha ukufumana ukungalingani ekuphuhlisweni kwamasipha. Ukuba izibonakaliso zihambelana nempawu zesifo, iifrafatal scans of heart's future heart are being done. Ngokuqhelekileyo i-Holt-Oram syndrome izimisele emva kokuzalwa komntwana. Iimpazamo ezisisigxina kwisakhiwo se-skeleton zihlolisiswa ngenyameko yi-cardiologist, kuba ukuqina kwesi sifo kuxhomekeke kwimbonakalo ye-cardiac ye-syndrome.

Iingxaki zokuzalwa

Iziganeko ezingavumelekanga kwisakhiwo se-forearm nesandla, esivela kwicala elinye okanye zombini kanye. I-Degree yokuphuhliswa kwengqondo kunye nokuguqulwa kwamalungu ayilwahlukileyo: oku kubakho kwee-phalanges ezintathu kumnwe omnye okanye xa kungekho minwe emikhulu ezandleni. Ngokuqhelekileyo kuyenzeka ngeminwe ngakwesobunxele. Kukho iimeko ezinzima xa kukho i-hypoplasia ye-radius okanye ukungabikho kwe-radius. Ngaphantsi kangangoko kuphawuliwe: iminwe edibeneyo phakathi kwabo, ukukhubazeka kwe-sternum, ukuphuhliswa kweeflavicle kunye ne-scapula, ukukhawuleka komgudu. Utshintsho lwe-skeletal alusongela ubomi bomntu. Kodwa ukuphulwa komsebenzi osebenzayo kwiziko elichaphazelekayo kubandakanya ubomi.

Phantse i-85% yezigulane zineentlungu zentliziyo yokuzalwa: i-constriction kwaye ivula i-aortic duct, i-stenosis ye-pulmonary artery, ukuphulwa kwesakhiwo se-valve. Ngokuqhelekileyo kukho i-defenital defect ye-septum yenkonzo. Kuhluke ngokukrakra: ukusuka ekungabonakali kwi-defect enkulu yesibini, isiphumo sokusilela kwintliziyo.

Uhlobo oluphambili lwelifa

Esi sifo sibonakaliswe ngu:

• Ukudluliselwa kwesifo rhoqo kwisinye isizukulwana ukuya kwesinye.
• Ukuba i-gene ibonakaliswe kakhulu, lesi sifo asiyeki isizukulwana, kodwa sinokulandelwa kumalungu entsapho kwi-genus nganye.
• Imfuza iyadluliselwa kubazali kubantwana. Ngaphandle kweemeko ezisandul 'ukuvela kweso sifo kwintsapho ngenxa yokuguqulwa kwamanye emzimbeni, okugqithiselwa ngokusuka kwinqanaba eligulayo kwintsapho enempilo.
• Ngokuqhelekileyo isifo sidluliselwa ngomgca omnye womzali.
• Akunabo bonke intsapho abadla ilifa lomzimba wesifo: amalungu enempilo yentsapho azalwa inzala engenakho iimpawu zokubonakalisa kwesi sifo.

• Ukuba abantwana banomama omnye, noobawo bahlukileyo, okanye ngokuphambene, ubaba unye, kwaye oomama bahluke, abantwana bomzali oqhelekileyo banokulidla ilifa.
• Uhlobo lwe-autosomal oluyinxalenye yelifa aluxhomekeke kumntu othile wesini esithile. Amadoda nabasetyhini bachaphazeleka ngokufanayo ngesifo.

Septum ye-Atrial

Ukuba isiphako siyagcinwa, isifo senhliziyo esiswini sinokukhula, esinokuqhekeza okanye ukuhlanganiswa nezinye izifo ngaphakathi kwentliziyo. I-septum ye-interumrial isebenza ngokuthe tye xa kuxoxwa ngokulula phakathi kwe-atria ezimbini: ngakwesobunxele nakwesokudla. Ukuba isigulane sinesifo se-Holt-Oram, sinokuphefumla okufutshane, iisandi entliziyweni, ukukhathala kunye nokuguquka kwenyama, ukugqithisa kwesikhumba kunye nezifo zokuphefumula rhoqo. Isifo senhliziyo esisweleyo ngenxa ye-pathology siyabonwa malunga ne-5-15% yezigulane, kwaye kwabasetyhini ziqheleke kabini njengabantu.

Inyaniso yokuba umntwana, ngelixa esesibelethweni, unomgodi ovulekileyo kwi-septum ye-interancial. Iqinisekisa ukujikeleza kwegazi ngokuqhelekileyo. Emva kokuba umntwana ezalwe, umgodi kwiintsana ezitsha zivaliwe. Nangona kukho amaxesha apho oku kungenzeki. Kodwa ukukhutshwa kwegazi kulo mgobo akubalulekanga ukuba umntu akanakuziva engafanelekanga kwaye akaze akrokre ukuba unayo. Uhlala ngokuthula kude kube ngumdala. Iimpazamo ezinjalo zobomi, ezifana nesiphene se-septum ye-interamrial, zinokuhluka kobuninzi, imilo kwaye zenzeke kwiindawo ezahlukeneyo.

Iingxaki zonyango lwe-ART. Iintlobo

• Ukungahambi kwinqanaba eliyinxalenye ye-septum yintlobo yokuphuhliswa okungavumelekanga kwimiqulu kwaye yindawo engaphantsi kweyesithathu kwisigxina se-valves. Kananjalo nabo bangakwazi ukukhubazeka kwaye abahambelani nokusebenza komsebenzi ohlosiweyo. Kukho iimeko apho ngoncedo lwabo i-valve efana ne-atrioventricular septum yenziwa.
• Kwi-septum ye-interamrial kukho inkohlakalo yesahlulo sayo sesibini, ebonwa phezulu okanye kwingingqi ye-ovoid fossa. Kule meko, igazi kwi-atrium elungileyo livela ngakwesobunxele. Ngokuqhelekileyo ezi ziphoso zibizwa ngokuba yiziphene zesibini kwaye zivela phambi kwesiphene kwiisishu zee septum. Kodwa ngexesha elifanayo, ubuchule obusebenzayo kunye ne-anatomical of defect bugcinwe.

Iimpawu zobuthathaka

• I-Holt-Oram syndrome ihambelana ngqo nesigulane seminyaka, ubukhulu be siphene se-septum, ubukhulu bokuxhathisa iimpahla zamapulmonari. Izigulane ezininzi ezinesiphene zibukeka ziphilile kwaye azikhalazi. Inyaniso kukuba igazi liyakhululwa ukusuka kwesobunxele kuya kwesokudla ngenxa yokuzikhandla ngokwemvelo okanye ukukhathala, kungekhona ngenxa yesiphene. Kwiimeko ezininzi, ingxolo entliziyweni ayivakalayo. Ngamanye amaxesha kwenzeka ngephene enkulu ye-septum ye-interancial.

• Oku kuphazamiseka kubangelwa ukuba kubangele i- proral valve. Izigulane ezinesifo esinjalo zivakala ngokuvakalayo okanye ukuchofoza.
• Ukuba ubukhulu besiphene bukhulu kakhulu, umntu une tachycardia, i-dyspnea, i-heart hump, xa umda wegqeba uphakanyiswa ngakwesokudla. Kulula, ngoncedo lweminwe, ukucacisa ukutshatyalaliswa kwe-pulmonary artery.
• Isalathiso sesibini ye-septum yezobudlelwane kwiimeko ezinqabileyo zingabangela ukuhluleka kwentliziyo. Oku kubonwa kwi-3-5% yezigulane, ikakhulukazi kubantwana ukuya kunyaka owodwa. Ukuba awunalo utyando, umngcipheko wokufa ukhulu.

Iingxaki zonyango lwe-ART. Izizathu

Ama-anomali ayenzeka xa i-septa eziphambili okanye ezisekondari kunye namagqabi endocardial angaphuhliswa ngexesha lophuhliso lwe- embryonic .

• Ukubonakala kwesiphene kuhambelana nemfuza, yemvelo, yendalo kunye nezifo ezithintekayo.
• Uphuhliso olungavumelekanga lwe-septum yomntwana kwisibeleko lunomngcipheko omkhulu kwiintsapho ezihlobo zabo zigula ngenxa yesifo senhliziyo.
• Izifo zentsholongwane yentsholongwane yowesifazane okhulelweyo zingabangela isiphako se-septum ye-interatrial. Ezi zi-rubella, i- herpes, inkukhu yenkukhu, i-syphilis.
• Iziyobisi kunye notywala ngexesha lokukhulelwa.
• Izinto ezinobungozi kwindawo yokusebenzela, ukukhanya kweemitha.
• Iingxaki ngenxa ye-toxicosis, ngenxa yoko kubangelwa umthwalo womntwana.

Iintsilelo ze-septum yezobudlelwane. Ukwahlula

Phakathi kweveki yesithathu neyesibhozo zokukhulelwa, intliziyo yomntwana ilele kwisisu somama. Ukuba i-septum engaphelelanga yenziwa phakathi kweengxenye ezisekunene nakwesobunxele entliziyweni, oku kubangela ukubonakala kweziphene ze-septum, ezahluke ngobuninzi, inombolo kunye nendawo yemingxuma. Ukwahlula kweentsilelo zesifo senhliziyo kubangelwa lulandelayo:

• Iziphene zaseprayimari zibonakaliswa ngobukhulu obukhulu: ukusuka kumitha amathathu ukuya kweetentimitha. Isiza sendawo yaso siyinxalenye engezantsi ye-septum, esekwe ngaphezu kweenqwelo ze-atrioventricular, ngaphezu kwazo. Abanalo umgca ongaphantsi.
• Iziphene zesekondari zenziwe ngenxa yokuphuhliswa kwee-septum zesekondari. Zincinci ngobukhulu kwaye zifunyenwe kwinqanaba eliphambili okanye kummandla womlomo weemvini ezingenanto. Kwenzeka ukuba iziphene ze-septum kunye nokugeleza okungavumelekanga kwi-atrium elungileyo yeemvumba ze-pulmonary zidibene. Kule meko, i-septum yeerrium ihlala kwindawo ephantsi.
• Kukho iimeko xa iziphene zesekondari neziphambili zikhona ngokufanayo.
• I-septum ye-Atrial ingabikho ngokupheleleyo. Oku kubangela ukwakheka kwe-atrium enye, ebizwa ngokuba yintliziyo yesithathu.

Isifo senhliziyo esazalwa. Diagnostics

Ukuba usana olusandulwayo luya krokrelwa kwesi sifo, umnxeba ngokukhawuleza we-cardiologist kuyimfuneko. Iingcali zijonga iimpawu zesi sifo, zivavanya uhlobo lwe-pulse kunye noxinzelelo, urhulumente wezitho zonke kunye neenkqubo. Emva kokuvavanya umntwana, i-electrocardiogram, ukuhlolwa kwe-ultrasound, i-phonocardiogram, kunye ne-X-ray yentliziyo eyenziwa. Kwimeko yesifo esibi, ukuxilongwa kwemiphumo yokuzalwa komntwana kubonelelwe ngenye indlela yokuhlolwa kwengqondo, xa i-probe ifakwe kwisigxina sayo.

Ngokuqhelekileyo abazali bomntwana bathukuthele ukuba ugqirha oya kwintlanganiso akabonakalisi esi sifo esiyingozi, xa umama okhuselekileyo ebonwa naye yonke ixesha lokukhulelwa. Isizathu sentsholongwane yesifo senhliziyo sinokuthi:

• Izinga eliphantsi lobugcisa begqirha.
• Izifo ezibangelwa yi-Congenital zikwazi ukuhlala zifunyenwe ngexesha elifanelekileyo ngenxa yeempawu zeentliziyo kunye nemikhumbi ye-fetal.
• Ukungafezeki kwezixhobo zonyango.

Izizathu zesifo senhliziyo esiswini

Ukukhubazeka kwentliziyo ebantwini kwiintsana kubangelwa iimpembelelo ze-anatomical yentliziyo, iipavves kunye nezitya zayo, ezinokuthi zenzeke nasesizalweni sikamama. Ekuqaleni, bangabonakali, kodwa banokuphazamisa umntwana emva kokuzalwa kwakhe. Iintsilelo zeentliziyo ziyizona zingxaki eziqhelekileyo zokuzalwa zintsana kwaye zenza malunga ne-30%. Zizona zizathu eziqhelekileyo zokufa. Izizathu zokuphuhliswa kwesiphene se-annal:

• Ukuhlehliswa ngexesha lokukhulelwa, izifo zentsholongwane, ezifana nerubella, isisisi kunye nabanye.
• Utshintsho lwe-Genetic olubangelwa kukusetyenziswa kwezilwanyana zangomso, utywala, i-nicotine.
• Ukuphambuka okuhlukeneyo kweesethi ze-chromosome zabazali.
• Irradiation nge-radiation ionizing.
• Ukusilela kwamancinci kunye namavithamini ekudleni komfazi okhulelweyo.
• Imiphumo yeziyobisi kumntwana.

Izibonakaliso zesifo senhliziyo esiswini

Iintsana ezizalwe nesi sifo zihlukile. Banobuhlungu besikhumba, imilomo, i-auricles inemibala ebomvu okanye eluhlaza okwesibhakabhaka. Ngamanye amaxesha, ngokuchaseneyo, ulusu lomntwana luba lubala, kwaye imilenze ibanda. Oku kubizwa ngokuba ngumhlophe ngeengxaki zeentsana. Kukho iimeko xa, xa uphulaphule, igosa liva ngokucacileyo imisindo entliziyweni.

Ngokuqhelekileyo isifo somzimba esasunamaqabane sithotyelwa emva kokuzalwa komntwana. Iminyaka eyi-10, umntwana uya kubonakala ephilileyo. Kodwa ke, eso sifo siqala ukubonakala ngendlela yokugcoba okanye ukugquma kwesikhumba. Kuya kubakho ukuphazamiseka okubonakalayo ekuphuculeni ngokomzimba, kuya kuba nokuphefumula okufutshane.